Riboflavin-responsive MADD

Riboflavin-responsive MADD. Designation for patients suffering from multiple acyl-CoA dehydrogenation deficiency, a rare mitochondrial p-oxidation disease, whose clinical and biochemical symptoms recover upon dietary intake of high-doses of the vitamin riboflavin. 

One particular case of such pathological conditions is multiple acyl-CoA dehydrogenation deficiency (MADD) or glutaric aciduria type-II, a rare disease arising from defects in either ETF or ETF QO. In this condition, vitamin B2 supplementation has in some cases been successfully employed for the treatment of this fatty add oxidation (FAO) disorder. However, the molecular rational for the benefidal eflect of riboflavin supplementation is not fully clearly defined and the reason why only some MADD patients are responsive to riboflavin whereas others are not remains as one of the key challenging issues in the field (Gregersen et al. 1990 Olsen et al. 2007). 

In this section we provide an overview of recent approaches that have contributed to clarify riboflavin eflects in MADD, one focusing on global pro-teomic responses upon riboflavin supplementation and the other detailing the molecular rationale for such eflects in respect to consequences on the structure, function and folding of ETF. 

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See also in sourсe #XX -- [ ]

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